| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360614 |
| Start |
5713245:5713245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs139555567
|
| CDS Mutation |
c.527C>T |
| AA Mutation |
p.Ser176Leu(p.S176L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360614 |
| Start |
5694516:5694516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768949488
|
| CDS Mutation |
c.2191G>A |
| AA Mutation |
p.Glu731Lys(p.E731K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000360614 |
| Start |
5692035:5692035(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs150782036
|
| CDS Mutation |
c.2877G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |